7 minute read
A Heartfelt Legacy
Region’s Only Pediatric Marfan and Aortopathy Clinic Offers Comprehensive, Long-term Care for Children Diagnosed with Marfan Syndrome and Other Connective Tissue Disorders
Written by Stephanie Stemmler
Marin Schettler, 9, has what many say is a heart of gold. At Point Elementary School in South St. Louis County last year, Marin was voted as the “Most Kind Person” in her third-grade class. “She’s like her dad,” says Marin’s mother Molly Schettler. “He had a kind soul, too.”
In multiple ways, Marin is like her father. The two shared a love of chips and popcorn and both loved Walt Disney World®. They also shared a diagnosis of a connective tissue disorder called Marfan syndrome. “My husband, Dave, was diagnosed with Marfan syndrome when he was 5 years old,” says Molly Schettler. “It was discovered after his pediatrician noticed a heart murmur and sent him to a heart specialist.”
Marfan syndrome is part of a group of inherited disorders that affect the tissue that supports muscles, bones and organs throughout the body. It is caused by a gene variant, and parents with the altered gene have a 50/50 chance of passing the condition on to their child.
“It can affect multiple body systems, with the two most common being the heart and eyes,” says Chetana Reddy, MD, a pediatric cardiologist at SSM Health Cardinal Glennon Children’s Hospital who specializes in congenital and acquired heart diseases. “With the heart, children can have valve malformations or dilation of the aorta. Early detection is critical to identify valve or aorta problems, and regular lifelong monitoring is also very important so that we can appropriately manage and treat these heart conditions.”
While some outward signs seem simple to recognize, such as unusually long fingers and a tall, lanky body, it often takes a genetic test along with an echocardiogram, eye exam and X-rays of the chest and spine to confirm the diagnosis. Even if an infant or child is gene-positive for Marfan syndrome, they may not develop symptoms or outward signs until they grow older.
“It’s not always a familial connection, and it may be diagnosed when a child is young or is a teen needing a back-to-school sports physical,” notes geneticist Stephen Braddock, MD, at SSM Health Cardinal Children’s Hospital. “Also, some people don’t even know they have the syndrome until there are problems in adulthood. There is, however, a familial link in about 75% of cases.”
SSM Health Cardinal Glennon has the only dedicated pediatric Marfan and Aortopathy program in the St. Louis region. Co-led by Drs. Reddy and Braddock, the multidisciplinary program offers a one-stop clinic to obtain accurate diagnosis and treatment options for children with Marfan syndrome, Loeys–Dietz syndrome and vascular Ehlers-Danlos syndrome.
“In other places, a child may go first to a cardiologist, then to an ophthalmologist, and then maybe a geneticist, which means it might take months to obtain a formal diagnosis,” says Dr. Braddock. “Here, we have all the specialists available under one umbrella so that children can get comprehensive testing, a timely diagnosis and rapid care.”
Genetic counselor Katherine Christensen, MS, CGC, handles referrals and is the “Sherlock Holmes” gatherer of family medical history, which sometimes is difficult to find. “Often there are anecdotal mentions that a grandparent or someone in the family had a heart issue or was very tall, but there’s no mention of Marfan syndrome,” she says. “We do a lot of digging to see if we can confirm a genetic link.”
For Marin’s father, no previous family members were diagnosed with Marfan syndrome. “He was tall (6’5”), wore glasses and had flat feet,” says Molly Schettler. “He did have heart problems earlier, including an enlarged aorta and a mitral valve prolapse.”
The couple talked at length about the risks of passing the abnormal gene to a child. After 17 years of marriage and genetic testing and counseling, they decided to move forward, knowing the 50/50 risk. “I felt great during pregnancy,” says Molly Schettler. “When Marin was born, though, we immediately noticed the longer fingers and toes. Genetic testing a few months later confirmed the diagnosis. Marin’s first cardiology appointment when she was 5 months old found that she had an enlarged aortic root.”
Doctors prescribed a beta blocker for the heart issues as well as occupational therapy to improve weak muscle tone. Last year, Marin got prescription eyeglasses. “She’s basically a regular kid, which is great,” says Molly Schettler. “I feel very empowered about handling her health issues because everyone at the Cardinal Glennon clinic has been so involved and proactive with her care and our ongoing education of the condition.”
The family is, in fact, quite knowledgeable about connective tissue disorders. Dave Schettler worked for a while at Washington University School of Medicine in a lab conducting research on FBN1, the gene involved in Marfan syndrome. His father, Richard, supported the establishment of the Marfan Foundation in St. Louis.
For years, Dave Schettler lived life to the fullest, taking the family on trips to Walt Disney World and making special memories with Molly and Marin. In 2019, however, he started having more serious problems related to Marfan syndrome. At age 42, he was diagnosed with congestive heart failure and needed a mitral valve repair. Complications developed, requiring a lengthy hospital stay. He returned home in time to celebrate the Blues hockey team winning the Stanley Cup. Says Molly Schettler, “He was a big fan of the Blues, so it was a great time to have him home.”
A month later, Dave Schettler was working in the basement when a rapid decline in blood pressure caused him to fall. He was taken to the hospital and immediately moved to intensive care. After experiencing seizures and having a heart attack, he passed away on August 4, 2019. Marin was 4 years old.
“We’ve got a lot of good memories and a special book of photos we took of Marin and Dave together,” says Molly Schettler. “We look at it often.”
Now 9 years old, Marin entered 4th grade this fall. She still has a huge smile on her face when she looks at all the photos and listens to her mom talk about her dad.
Molly Schettler says she’s hopeful that advances in care will continue to improve the health of those diagnosed with connective tissue disorders.
Says Dr. Reddy, “We want to provide support and resources so that children with Marfan syndrome can safely live their lives and grow into adulthood. The pendulum has swung in how we care for these children, and we know now that restricting their activities is not good for their mental or physical health. Participating in recreational cardiovascular exercise is very important for their heart health and helps with muscle strength and joint pains. While it is not recommended that they engage in contact sports, children can still be quite active, and biking, running and swimming are all great alternatives.”
“We know we need annual exams, and we have to be vigilant,” says Molly Schettler. “But we are empowered to move forward with our lives, and Cardinal Glennon’s team helps us do that.”
